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MCID: HYP458
MIFTS: 52

Hyper Ige Syndrome

Categories: Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Hyper Ige Syndrome

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MalaCards integrated aliases for Hyper Ige Syndrome:

Name: Hyper Ige Syndrome 54
Hyper-Ige Syndrome 38 30 56 6
Hyper-Ige Recurrent Infection Syndrome 54
Hyperimmunoglobulin E Syndrome 54
Hartnup Disease 74
Job Syndrome 74
H Disease 56
Hies 54

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Skin diseases
See all MalaCards categories (disease lists)


External Ids:

KEGG 38 H01968
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Summaries for Hyper Ige Syndrome

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NIH Rare Diseases : 54 Hyper IgE syndromes (HIES) are rare primary immune deficiencies characterized by elevated serum IgE, skin inflammation (dermatitis) and recurrent skin and lung infections. There are two forms of HIES, which have the above characteristics in common but otherwise have distinct presentations, courses and outcomes: autosomal dominant HIES (AD-HIES) and autosomal recessive HIES (AR-HIES). Click on the embedded links to learn more about autosomal dominant HIES (or Job syndrome) and autosomal recessive HIES.

MalaCards based summary : Hyper Ige Syndrome, also known as hyper-ige syndrome, is related to dermatitis and orofacial granulomatosis, and has symptoms including seizures An important gene associated with Hyper Ige Syndrome is STAT3 (Signal Transducer And Activator Of Transcription 3), and among its related pathways/superpathways are Innate Immune System and PEDF Induced Signaling. The drugs Miconazole and Posaconazole have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and bone, and related phenotypes are hematopoietic system and cellular

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Related Diseases for Hyper Ige Syndrome

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Diseases related to Hyper Ige Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 832)
# Related Disease Score Top Affiliating Genes
1 dermatitis 30.1 IFNG IGHE IL4 STAT3
2 orofacial granulomatosis 30.0 IFNG IL4
3 dermatitis, atopic 29.9 IFNG IGHE IL4 IL4R
4 folliculitis 29.9 IFNG IL4
5 variola major 29.7 IFNG TLR4
6 poliomyelitis 29.5 IFNG IL4
7 aspergillosis 29.5 IFNG IL4 TLR4
8 otitis media 29.3 IGHE IL4 TLR4
9 ige responsiveness, atopic 29.3 IFNG IGHE IL4 IL4R
10 asthma 29.3 IFNG IGHE IL4 IL4R
11 autoimmune disease 29.3 IFNG IL4 STAT3
12 renal cell carcinoma, nonpapillary 29.3 IFNG IL4 IL4R
13 acute graft versus host disease 29.2 IFNG IL4
14 schistosomiasis 29.1 IFNG IGHE IL4
15 echinococcosis 29.0 IFNG TLR4
16 aplastic anemia 29.0 IFNG IL4 STAT3
17 allergic asthma 29.0 IFNG IGHE IL4 IL4R
18 q fever 28.7 IFNG IL4 TLR4
19 brucellosis 28.7 IFNG IL4 TLR4
20 mycobacterium tuberculosis 1 28.7 IFNG IL4 TLR4
21 colitis 28.7 IFNG IL4 TLR4
22 malaria 28.5 HBA2 IFNG IL4 TLR4
23 inflammatory bowel disease 28.4 IFNG IL4 STAT3 TLR4
24 bronchiolitis 28.0 IFNG IGHE IL4 IL4R TLR4
25 his bundle tachycardia 12.5
26 hyper-ige recurrent infection syndrome 1, autosomal dominant 12.4
27 hyper-ige recurrent infection syndrome 2, autosomal recessive 12.2
28 immunodeficiency 35 11.8
29 histidinemia 11.7
30 hyperinsulinemic hypoglycemia, familial, 6 11.6
31 alpha-thalassemia myelodysplasia syndrome 11.4
32 ichthyosis, congenital, autosomal recessive 4b 11.4
33 hyperinsulinemic hypoglycemia, familial, 2 11.4
34 ocular motor apraxia 11.3
35 inherited metabolic disorder 11.3
36 progressive familial heart block, type ia 11.3
37 leukocyte adhesion deficiency, type iii 11.3
38 progressive familial heart block, type ib 11.2
39 west syndrome 11.2
40 kniest dysplasia 11.2
41 pulmonary fibrosis, idiopathic 11.2
42 sudden infant death syndrome 11.2
43 body dysmorphic disorder 11.2
44 gigantism 11.2
45 hypomelanosis of ito 11.0
46 trench fever 11.0
47 aniridia and absent patella 11.0
48 blackwater fever 11.0
49 chromosome 20p deletion 11.0
50 fryns hofkens fabry syndrome 11.0

Graphical network of the top 20 diseases related to Hyper Ige Syndrome:



Diseases related to Hyper Ige Syndrome
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Symptoms & Phenotypes for Hyper Ige Syndrome

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UMLS symptoms related to Hyper Ige Syndrome:


seizures

MGI Mouse Phenotypes related to Hyper Ige Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.01 DOCK8 IFNG IL4 IL4R PGM3 STAT3
2 cellular MP:0005384 10 DOCK8 IFNG IL4 IL4R STAT3 TLR4
3 immune system MP:0005387 9.97 DOCK8 IFNG IL4 IL4R PGM3 STAT3
4 digestive/alimentary MP:0005381 9.91 IFNG IL4 IL4R PGM3 STAT3 TLR4
5 mortality/aging MP:0010768 9.86 HBA2 IFNG IL4 IL4R PGM3 STAT3
6 liver/biliary system MP:0005370 9.72 IFNG IL4 IL4R STAT3 TLR4
7 renal/urinary system MP:0005367 9.55 IFNG IL4 PGM3 STAT3 TLR4
8 reproductive system MP:0005389 9.43 HBA2 IFNG IL4 PGM3 STAT3 TLR4
9 respiratory system MP:0005388 9.02 IFNG IL4 IL4R STAT3 TLR4
Sources

Drugs & Therapeutics for Hyper Ige Syndrome

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Drugs for Hyper Ige Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 42)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2 22916-47-8 4189
2
Posaconazole Approved, Investigational, Vet_approved Phase 3 171228-49-2 147912
3 Steroid Synthesis Inhibitors Phase 3
4 Hormones Phase 3
5 Cytochrome P-450 Enzyme Inhibitors Phase 3
6 Hormone Antagonists Phase 3
7 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
8 Anti-Infective Agents Phase 3,Phase 2,Not Applicable
9 Antiparasitic Agents Phase 3,Phase 2
10 Antifungal Agents Phase 3,Phase 2
11 Antiprotozoal Agents Phase 3,Phase 2
12
Amphotericin B Approved, Investigational Phase 2 1397-89-3 5280965 14956
13
Sodium Citrate Approved, Investigational Phase 2 68-04-2
14
Histamine Approved, Investigational Phase 2 51-45-6 774
15
Ranitidine Approved Phase 2 66357-59-3, 66357-35-5 3001055
16
Citric Acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
17 Immunoglobulins Phase 2,Phase 1
18 Antibodies Phase 2,Phase 1
19 Immunologic Factors Phase 2
20 Vaccines Phase 2
21 Agglutinins Phase 2
22 Anti-Bacterial Agents Phase 2,Not Applicable
23 Liposomal amphotericin B Phase 2
24 Autoantibodies Phase 2
25 Gastrointestinal Agents Phase 2
26 Citrate Phase 2
27 Neurotransmitter Agents Phase 2
28 Bismuth tripotassium dicitrate Phase 2
29 Ranitidine bismuth citrate Phase 2
30 Antacids Phase 2
31 Histamine Antagonists Phase 2
32 Anti-Ulcer Agents Phase 2
33
Bismuth Phase 2 7440-69-9 105143 16682734
34 Histamine H2 Antagonists Phase 2
35
Histamine Phosphate Phase 2 51-74-1 65513
36
Omalizumab Approved, Investigational Phase 1 242138-07-4
37 Respiratory System Agents Phase 1
38 Anti-Allergic Agents Phase 1
39 Anti-Asthmatic Agents Phase 1
40 Coagulase Not Applicable
41 Yellow Dock
42 Pharmaceutical Solutions Early Phase 1

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 Posaconazole to Treat Invasive Fungal Infections Completed NCT00033982 Phase 3 Posaconazole
2 Safety, Tolerability, and Immunogenicity of One Dose of NDV 3A Vaccine in People With STAT3-Mutated Hyper-IgE Syndrome Completed NCT02996448 Phase 2 NDV-3A
3 CAMB/MAT2203 in Patients With Mucocutaneous Candidiasis Recruiting NCT02629419 Phase 2 Amphotericin B
4 Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency Diseases Enrolling by invitation NCT01852370 Phase 1, Phase 2
5 Effect of Ranitidine on Hyper-IgE Recurrent Infection (Job's) Syndrome Terminated NCT00527878 Phase 2 Ranitidine;Placebo
6 Omalizumab to Treat Hyper-IgE (Job's) Syndrome Completed NCT00260702 Phase 1 Omalizumab (Xolair)
7 Diagnostic Effectiveness of Virtual Bronchoscopy Completed NCT00001515 Phase 1
8 NFIL3-induced Pathological Enhancement of IgE Class Switch Recombination in Hyper-IgE Syndrome Unknown status NCT02228941
9 Human Immunity Against Staphylococcus Aureus Skin Infection Completed NCT02262819 Not Applicable S. aureus
10 Learning and Behavior Problems in Children With Chronic Granulomatous Disease and Related Disorders Completed NCT00005933
11 Study of Clinical Features and Genetics of Hyperimmunoglobulin E Recurrent Infection Recruiting NCT00006150
12 Study of Mycobacterial Infections Recruiting NCT00018044
13 Studies of Skin Microbes in Healthy People and in People With Skin Conditions Recruiting NCT00605878
14 Natural History of Intestinal Inflammation in People With Primary Immune Dysregulations Recruiting NCT03278912
15 Participation in a Research Registry for Immune Disorders Recruiting NCT01953016
16 Detection and Characterization of Infections and Infection Susceptibility Enrolling by invitation NCT00404560
17 Skin Immunity Sample Collection Involving Blisters and Biopsies Not yet recruiting NCT03921515 Early Phase 1

Search NIH Clinical Center for Hyper Ige Syndrome

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Genetic Tests for Hyper Ige Syndrome

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Genetic tests related to Hyper Ige Syndrome:

# Genetic test Affiliating Genes
1 Hyper-Ige Syndrome 30
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Anatomical Context for Hyper Ige Syndrome

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MalaCards organs/tissues related to Hyper Ige Syndrome:

42
Skin, Lung, Bone, B Cells, T Cells, Heart, Prostate
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Publications for Hyper Ige Syndrome

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Articles related to Hyper Ige Syndrome:

(show top 50) (show all 281)
# Title Authors Year
1
Spectrum of pulmonary aspergillosis in Hyper IgE syndrome with autosomal dominant STAT3 deficiency. ( 30878710 )
2019
2
Hyper IgE Syndrome with Large Recurrent Head Abscesses Misdiagnosed as Folliculitis. ( 30896777 )
2019
3
Phenotyping and long-term follow up of patients with hyper IgE syndrome. ( 30279075 )
2019
4
Selective loss of function variants in IL6ST cause Hyper-IgE syndrome with distinct impairments of T-cell phenotype and function. ( 30309848 )
2019
5
Two Prenatal Cases of Hyper-IgE Syndrome. ( 30617622 )
2019
6
Hyper IgE syndrome associated with novel and recurrent STAT3 mutations: Two case reports. ( 30732127 )
2019
7
Lung disease in STAT3-Hyper-IgE-Syndrome requires intense therapy. ( 30793327 )
2019
8
Autosomal-dominant hyper-IgE syndrome is associated with appearance of infections early in life and/or neonatal rash: Evidence from the Italian cohort of 61 patients with elevated IgE. ( 30797078 )
2019
9
A Rare Case of Hyper IgE Syndrome with Vocal Cords Involvement. ( 31066259 )
2019
10
A Novel STAT3 Mutation in a Qatari Patient With Hyper-IgE Syndrome. ( 31069200 )
2019
11
Successful hematopoietic stem cell transplantation after myeloablative conditioning in three patients with dedicator of cytokinesis 8 deficiency (DOCK8) related Hyper IgE syndrome. ( 29269803 )
2018
12
A Novel STAT3 Gene Mutation Related Hyper-IgE Syndrome Misdiagnosed as Hidradenitis Suppurativa. ( 30186644 )
2018
13
Squamous Cell Carcinoma With Hyper-IgE Syndrome: A Case Report. ( 28902078 )
2018
14
Autosomal Dominant Hyper-IgE Syndrome in the USIDNET Registry. ( 28939137 )
2018
15
Rapid Transition of Facial Features from Early to Mid - Adolescence in Autosomal Dominant Hyper IgE Syndrome with a STAT3 Variation. ( 29368105 )
2018
16
Autosomal recessive hyper-IgE syndrome in two brothers of a Chinese family with a novel mutation in DOCK8 gene. ( 29419892 )
2018
17
Evaluation of the Role of stat3 in Antibody and TH17-Mediated Responses to Pneumococcal Immunization and Infection by Use of a Mouse Model of Autosomal Dominant Hyper-IgE Syndrome. ( 29463618 )
2018
18
Autosomal-Recessive Hyper-IgE Syndrome. ( 29527033 )
2018
19
Pulmonary Artery Pseudoaneurysm in Hyper-IgE Syndrome: Rare Complication With Successful Endovascular Management. ( 29552943 )
2018
20
Esophageal Intramural Pseudodiverticulosis with Tracking in a Child with Autosomal Dominant Hyper-IgE Syndrome. ( 29746342 )
2018
21
STAT3-Mediated Transcriptional Regulation of Osteopontin in STAT3 Loss-of-Function Related Hyper IgE Syndrome. ( 29868029 )
2018
22
A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity. ( 29907691 )
2018
23
TNF overproduction impairs epithelial staphylococcal response in hyper IgE syndrome. ( 30035749 )
2018
24
Chronic rhinosinusitis with severe nasal polyposis in hyper-IgE syndrome. ( 30081087 )
2018
25
Human hyper-IgE syndrome: singular or plural? ( 30094507 )
2018
26
Clinical Manifestation of Hyper IgE Syndrome Including Otitis Media. ( 30112673 )
2018
27
Eosinophilia and reduced STAT3 signaling affect neutrophil cell death in autosomal-dominant Hyper-IgE syndrome. ( 30315710 )
2018
28
Odontogenic deep neck space infection in a patient with hyper-IgE syndrome: A case report. ( 30386513 )
2018
29
Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutation. ( 30425284 )
2018
30
TH9 immunodeficiency in patients with hyper-IgE syndrome. ( 30439405 )
2018
31
Report of Massive Bleed after Chest-drain Insertion in a Case of Job's (hyper-IgE) Syndrome. ( 30443121 )
2018
32
An Unusual Presentation of Hip Pain in a Patient with Known Hyper-IgE Syndrome and Multiple Calcified Pelvic Apophyses. ( 30687673 )
2018
33
Scabies, Periorbital Cellulitis and Recurrent Skin Abscesses due to Panton-Valentine Leukocidin-Positive Staphylococcus aureus Mimic Hyper IgE Syndrome in an Infant. ( 28938255 )
2017
34
Cold-induced hyperhidrosis: possible association with hyper-IgE syndrome. ( 27778332 )
2017
35
AD Hyper-IgE Syndrome Due to a Novel Loss-of-Function Mutation in STAT3: a Diagnostic Pursuit Won by Clinical Acuity. ( 27844301 )
2017
36
Coronary atherosclerosis and dilation in hyper IgE syndrome patients: Depiction by magnetic resonance vessel wall imaging and pathological correlation. ( 28167354 )
2017
37
Clinical Manifestations and Genetic Analysis of 17 Patients with Autosomal Dominant Hyper-IgE Syndrome in Mainland China: New Reports and a Literature Review. ( 28197791 )
2017
38
Reduced Immunoglobulin (Ig) G Response to Staphylococcus aureus in STAT3 Hyper-IgE Syndrome. ( 28203787 )
2017
39
Pediatric anaphylaxis and hyper IgE syndrome. ( 28280372 )
2017
40
Novel Mutation in SH2 Domain of STAT3 (p.M660T) in Hyper-IgE Syndrome with Sterno-Clavicular and Paravertebral Abscesses. ( 28315006 )
2017
41
Life-Threatening Pneumopathy and U urealyticum in a STAT3-Deficient Hyper-IgE Syndrome Patient. ( 28562253 )
2017
42
Molecular Typing of Staphylococcus aureus Isolated from Patients with Autosomal Dominant Hyper IgE Syndrome. ( 28587312 )
2017
43
Hyper IgE Syndrome and Renal Cell Carcinoma. ( 28607797 )
2017
44
Progressive multifocal leukoencephalopathy in a patient with lymphoma and presumptive hyper IgE syndrome. ( 28643229 )
2017
45
Gastrointestinal Manifestations of STAT3-Deficient Hyper-IgE Syndrome. ( 28803389 )
2017
46
Acute cardiac disease in a patient with hyper-IgE syndrome. ( 28884991 )
2017
47
Functional Defects in Type 3 Innate Lymphoid Cells and Classical Monocytes in a Patient with Hyper-IgE Syndrome. ( 29093656 )
2017
48
Th2 and Th9 responses in patients with chronic mucocutaneous candidiasis and hyper-IgE syndrome. ( 27474157 )
2016
49
The Potential and Limits of Hematopoietic Stem Cell Transplantation for the Treatment of Autosomal Dominant Hyper-IgE Syndrome. ( 27091139 )
2016
50
Novel DOCK8 gene mutations lead to absence of protein expression in patients with hyper-IgE syndrome. ( 26659092 )
2016
Sources

Variations for Hyper Ige Syndrome

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ClinVar genetic disease variations for Hyper Ige Syndrome:

6 (show top 50) (show all 340)
# Gene Variation Type Significance SNP ID Assembly Location
1 STAT3 NM_139276.2(STAT3): c.1909G> A (p.Val637Met) single nucleotide variant Pathogenic rs113994139 GRCh37 Chromosome 17, 40474492: 40474492
2 STAT3 NM_139276.2(STAT3): c.1909G> A (p.Val637Met) single nucleotide variant Pathogenic rs113994139 GRCh38 Chromosome 17, 42322474: 42322474
3 STAT3 NM_139276.2(STAT3): c.1654-11C> G single nucleotide variant Benign/Likely benign rs17882035 GRCh37 Chromosome 17, 40475383: 40475383
4 STAT3 NM_139276.2(STAT3): c.1654-11C> G single nucleotide variant Benign/Likely benign rs17882035 GRCh38 Chromosome 17, 42323365: 42323365
5 PGM3 NM_015599.3(PGM3): c.248T> C (p.Leu83Ser) single nucleotide variant Pathogenic rs267608260 GRCh37 Chromosome 6, 83898474: 83898474
6 PGM3 NM_015599.3(PGM3): c.248T> C (p.Leu83Ser) single nucleotide variant Pathogenic rs267608260 GRCh38 Chromosome 6, 83188755: 83188755
7 PGM3 NM_015599.3(PGM3): c.1504G> T (p.Asp502Tyr) single nucleotide variant Pathogenic rs267608261 GRCh37 Chromosome 6, 83880059: 83880059
8 PGM3 NM_015599.3(PGM3): c.1504G> T (p.Asp502Tyr) single nucleotide variant Pathogenic rs267608261 GRCh38 Chromosome 6, 83170340: 83170340
9 DOCK8 NM_203447.3(DOCK8): c.1692T> C (p.Tyr564=) single nucleotide variant Benign rs10972587 GRCh37 Chromosome 9, 368030: 368030
10 DOCK8 NM_203447.3(DOCK8): c.1692T> C (p.Tyr564=) single nucleotide variant Benign rs10972587 GRCh38 Chromosome 9, 368030: 368030
11 DOCK8 NM_203447.3(DOCK8): c.1790C> T (p.Ala597Val) single nucleotide variant Benign/Likely benign rs17673268 GRCh37 Chromosome 9, 368128: 368128
12 DOCK8 NM_203447.3(DOCK8): c.1790C> T (p.Ala597Val) single nucleotide variant Benign/Likely benign rs17673268 GRCh38 Chromosome 9, 368128: 368128
13 DOCK8 NM_203447.3(DOCK8): c.1812A> G (p.Lys604=) single nucleotide variant Benign rs913703 GRCh37 Chromosome 9, 370244: 370244
14 DOCK8 NM_203447.3(DOCK8): c.1812A> G (p.Lys604=) single nucleotide variant Benign rs913703 GRCh38 Chromosome 9, 370244: 370244
15 DOCK8 NM_203447.3(DOCK8): c.2295C> T (p.Ser765=) single nucleotide variant Benign/Likely benign rs12348944 GRCh37 Chromosome 9, 377066: 377066
16 DOCK8 NM_203447.3(DOCK8): c.2295C> T (p.Ser765=) single nucleotide variant Benign/Likely benign rs12348944 GRCh38 Chromosome 9, 377066: 377066
17 DOCK8 NM_203447.3(DOCK8): c.2340G> C (p.Leu780=) single nucleotide variant Benign rs10814431 GRCh37 Chromosome 9, 377111: 377111
18 DOCK8 NM_203447.3(DOCK8): c.2340G> C (p.Leu780=) single nucleotide variant Benign rs10814431 GRCh38 Chromosome 9, 377111: 377111
19 DOCK8 NM_203447.3(DOCK8): c.2916C> T (p.Thr972=) single nucleotide variant Benign rs2297075 GRCh37 Chromosome 9, 390512: 390512
20 DOCK8 NM_203447.3(DOCK8): c.2916C> T (p.Thr972=) single nucleotide variant Benign rs2297075 GRCh38 Chromosome 9, 390512: 390512
21 DOCK8 NM_203447.3(DOCK8): c.3021T> C (p.Phe1007=) single nucleotide variant Benign/Likely benign rs7034926 GRCh37 Chromosome 9, 396835: 396835
22 DOCK8 NM_203447.3(DOCK8): c.3021T> C (p.Phe1007=) single nucleotide variant Benign/Likely benign rs7034926 GRCh38 Chromosome 9, 396835: 396835
23 DOCK8 NM_203447.3(DOCK8): c.3208A> G (p.Asn1070Asp) single nucleotide variant Benign/Likely benign rs73382631 GRCh37 Chromosome 9, 399233: 399233
24 DOCK8 NM_203447.3(DOCK8): c.3208A> G (p.Asn1070Asp) single nucleotide variant Benign/Likely benign rs73382631 GRCh38 Chromosome 9, 399233: 399233
25 DOCK8 NM_203447.3(DOCK8): c.3230G> A (p.Ser1077Asn) single nucleotide variant Benign/Likely benign rs34627722 GRCh37 Chromosome 9, 399255: 399255
26 DOCK8 NM_203447.3(DOCK8): c.3230G> A (p.Ser1077Asn) single nucleotide variant Benign/Likely benign rs34627722 GRCh38 Chromosome 9, 399255: 399255
27 DOCK8 NM_203447.3(DOCK8): c.3565A> G (p.Ile1189Val) single nucleotide variant Benign/Likely benign rs77399114 GRCh37 Chromosome 9, 414816: 414816
28 DOCK8 NM_203447.3(DOCK8): c.3565A> G (p.Ile1189Val) single nucleotide variant Benign/Likely benign rs77399114 GRCh38 Chromosome 9, 414816: 414816
29 DOCK8 NM_203447.3(DOCK8): c.5187A> G (p.Val1729=) single nucleotide variant Benign/Likely benign rs111535933 GRCh37 Chromosome 9, 439352: 439352
30 DOCK8 NM_203447.3(DOCK8): c.5187A> G (p.Val1729=) single nucleotide variant Benign/Likely benign rs111535933 GRCh38 Chromosome 9, 439352: 439352
31 DOCK8 NM_203447.3(DOCK8): c.5211G> A (p.Glu1737=) single nucleotide variant Conflicting interpretations of pathogenicity rs34098809 GRCh37 Chromosome 9, 439376: 439376
32 DOCK8 NM_203447.3(DOCK8): c.5211G> A (p.Glu1737=) single nucleotide variant Conflicting interpretations of pathogenicity rs34098809 GRCh38 Chromosome 9, 439376: 439376
33 DOCK8 NM_203447.3(DOCK8): c.5491-7T> A single nucleotide variant Conflicting interpretations of pathogenicity rs184867151 GRCh37 Chromosome 9, 443420: 443420
34 DOCK8 NM_203447.3(DOCK8): c.5491-7T> A single nucleotide variant Conflicting interpretations of pathogenicity rs184867151 GRCh38 Chromosome 9, 443420: 443420
35 DOCK8 NM_203447.3(DOCK8): c.5818-14C> T single nucleotide variant Benign/Likely benign rs10124592 GRCh37 Chromosome 9, 449770: 449770
36 DOCK8 NM_203447.3(DOCK8): c.5818-14C> T single nucleotide variant Benign/Likely benign rs10124592 GRCh38 Chromosome 9, 449770: 449770
37 DOCK8 NM_203447.3(DOCK8): c.5832G> A (p.Pro1944=) single nucleotide variant Benign/Likely benign rs10491684 GRCh37 Chromosome 9, 449798: 449798
38 DOCK8 NM_203447.3(DOCK8): c.5832G> A (p.Pro1944=) single nucleotide variant Benign/Likely benign rs10491684 GRCh38 Chromosome 9, 449798: 449798
39 DOCK8 NM_203447.3(DOCK8): c.5908G> C (p.Ala1970Pro) single nucleotide variant Benign/Likely benign rs34908836 GRCh37 Chromosome 9, 449874: 449874
40 DOCK8 NM_203447.3(DOCK8): c.5908G> C (p.Ala1970Pro) single nucleotide variant Benign/Likely benign rs34908836 GRCh38 Chromosome 9, 449874: 449874
41 DOCK8 NM_203447.3(DOCK8): c.65C> T (p.Ala22Val) single nucleotide variant Benign rs506121 GRCh37 Chromosome 9, 271638: 271638
42 DOCK8 NM_203447.3(DOCK8): c.65C> T (p.Ala22Val) single nucleotide variant Benign rs506121 GRCh38 Chromosome 9, 271638: 271638
43 DOCK8 NM_203447.3(DOCK8): c.187G> A (p.Asp63Asn) single nucleotide variant Benign/Likely benign rs3209441 GRCh37 Chromosome 9, 286491: 286491
44 DOCK8 NM_203447.3(DOCK8): c.187G> A (p.Asp63Asn) single nucleotide variant Benign/Likely benign rs3209441 GRCh38 Chromosome 9, 286491: 286491
45 DOCK8 NM_203447.3(DOCK8): c.699T> C (p.Asn233=) single nucleotide variant Benign rs2039045 GRCh37 Chromosome 9, 312124: 312124
46 DOCK8 NM_203447.3(DOCK8): c.699T> C (p.Asn233=) single nucleotide variant Benign rs2039045 GRCh38 Chromosome 9, 312124: 312124
47 STAT3 NM_139276.2(STAT3): c.1381G> C (p.Val461Leu) single nucleotide variant Benign/Likely benign rs149214040 GRCh37 Chromosome 17, 40477064: 40477064
48 STAT3 NM_139276.2(STAT3): c.1381G> C (p.Val461Leu) single nucleotide variant Benign/Likely benign rs149214040 GRCh38 Chromosome 17, 42325046: 42325046
49 PGM3 NM_015599.2(PGM3): c.1018_1020delGAA (p.Glu340del) deletion Pathogenic rs267608259 GRCh38 Chromosome 6, 83178682: 83178684
50 PGM3 NM_015599.2(PGM3): c.1018_1020delGAA (p.Glu340del) deletion Pathogenic rs267608259 GRCh37 Chromosome 6, 83888401: 83888403
Sources

Expression for Hyper Ige Syndrome

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Search GEO for disease gene expression data for Hyper Ige Syndrome.
Sources

Pathways for Hyper Ige Syndrome

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Pathways related to Hyper Ige Syndrome according to GeneCards Suite gene sharing:

(show all 44)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 67
Show member pathways
 13.83 IFNG IGHE IL4 IL4R STAT3 TLR4
2
PEDF Induced Signaling 65
Show member pathways
 13.48 IFNG IL4 IL4R STAT3 TLR4 TYK2
3
Cytokine Signaling in Immune system 67
Show member pathways
 13.15 IFNG IGHE IL4 IL4R STAT3 TYK2
4
IL-2 Pathway 65
Show member pathways
 13.02 IFNG IL4 IL4R STAT3 TLR4
5
p70S6K Signaling 65
Show member pathways
 12.87 IL4 IL4R STAT3 TYK2
6
PI3K-Akt signaling pathway 38
Show member pathways
 12.81 IL4 IL4R TLR4 TYK2
7
Pathways in cancer 38
12.67 IFNG IL4 IL4R STAT3
8
Common Cytokine Receptor Gamma-Chain Family Signaling Pathways 66
Show member pathways
 12.59 IL4 IL4R STAT3 TYK2
9
Immune response NFAT in immune response 23
Show member pathways
 12.46 IFNG IGHE IL4 IL4R
10
NF-kappaB Signaling 4
12.39 IFNG IL4 STAT3 TYK2
11
CNTF Signaling 65
Show member pathways
 12.18 STAT3 TLR4 TYK2
12
IL-17 Family Signaling Pathways 66
Show member pathways
 12.17 IFNG IL4 STAT3
13
Type I Interferon Signaling Pathways 66
Show member pathways
 12.14 IFNG STAT3 TYK2
14
JAK-STAT signaling pathway (KEGG) 66
Show member pathways
 12.09 IFNG IL4 IL4R STAT3 TYK2
15
Necroptosis 38
Show member pathways
 12.05 IFNG STAT3 TLR4 TYK2
16
Development IGF-1 receptor signaling 23
Show member pathways
 12.04 IGHE IL4 IL4R STAT3 TYK2
17
Bacterial infections in CF airways 23
Show member pathways
 12.03 IFNG IL4 TLR4
18
Colorectal Cancer Metastasis 65
12.03 IFNG STAT3 TLR4
19
Th17 cell differentiation 38
Show member pathways
 11.97 IFNG IL4 IL4R STAT3 TLR4 TYK2
20
Immune response IFN gamma signaling pathway 23
Show member pathways
 11.91 IFNG IL4 IL4R STAT3
21
Microglia Activation During Neuroinflammation: Overview 66
Show member pathways
 11.89 IFNG IL4 TLR4
22
Spinal Cord Injury 1
11.86 IFNG IL4 TLR4
23
Th1 Differentiation Pathway 66
Show member pathways
 11.85 IFNG STAT3 TLR4 TYK2
24
Toxoplasmosis 38
Show member pathways
 11.83 IFNG IL4 STAT3 TLR4 TYK2
25
HIF-1 signaling pathway 38
11.76 IFNG STAT3 TLR4
26
IL12-mediated signaling events 1
Show member pathways
 11.72 IFNG IL4 STAT3 TYK2
27
Jak-Stat Signaling Pathway (sino) 68
11.65 IFNG IL4R STAT3 TYK2
28
IL4-mediated signaling events 1
11.53 IGHE IL4 IL4R
29
Interleukin-10 signaling 67
11.41 IL4 STAT3 TYK2
30
Malaria 38
11.4 HBA2 IFNG TLR4
31
Th2 Differentiation Pathway 66
11.36 IFNG IL4 IL4R
32
Interleukin-11 Signaling Pathway 1
11.33 STAT3 TYK2
33
Jak/STAT Signaling Pathway Intracellular Regulation 66
11.29 STAT3 TYK2
34
Type III Interferon Signaling Pathways 66
Show member pathways
 11.27 STAT3 TYK2
35
African trypanosomiasis 38
11.24 HBA2 IFNG
36
IL-10 Pathway 65
11.21 STAT3 TLR4 TYK2
37
Development and heterogeneity of the ILC family 1
11.18 IFNG IL4
38
Inflammatory Response Pathway 1
11.17 IFNG IL4 IL4R
39
Cytokines and Inflammatory Response 1
11.12 IFNG IL4
40
IL12 signaling mediated by STAT4 1
11.1 IFNG STAT3
41
Immune response_IL-12 signaling pathway 23
Show member pathways
 11.1 IFNG STAT3 TYK2
42
Interleukin-4 and 13 signaling 67
11.08 IGHE IL4 IL4R STAT3 TYK2
43
OX40 Pathway 65
11.06 IFNG IL4
44
Immune response_Oncostatin M signaling via JAK-Stat in human cells 23
10.9 STAT3 TYK2
Sources

GO Terms for Hyper Ige Syndrome

About this section

Biological processes related to Hyper Ige Syndrome according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.73 IFNG IL4 STAT3 TLR4
2 interleukin-12-mediated signaling pathway GO:0035722 9.54 IFNG TYK2
3 positive regulation of nitric oxide biosynthetic process GO:0045429 9.52 IFNG TLR4
4 positive regulation of B cell proliferation GO:0030890 9.51 IL4 TLR4
5 positive regulation of interleukin-12 production GO:0032735 9.49 IFNG TLR4
6 negative regulation of osteoclast differentiation GO:0045671 9.48 IL4 TLR4
7 positive regulation of macrophage activation GO:0043032 9.46 IL4R TLR4
8 negative regulation of interleukin-17 production GO:0032700 9.4 IFNG TLR4
9 interleukin-27-mediated signaling pathway GO:0070106 9.37 STAT3 TYK2
10 immune response GO:0006955 9.35 IFNG IGHE IL4 IL4R TLR4
11 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.33 IFNG IL4 STAT3
12 interleukin-23-mediated signaling pathway GO:0038155 9.32 STAT3 TYK2
13 positive regulation of MHC class II biosynthetic process GO:0045348 9.26 IL4 TLR4
14 cytokine-mediated signaling pathway GO:0019221 9.02 IGHE IL4 IL4R STAT3 TYK2
Sources

Sources for Hyper Ige Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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